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October 1987

Further Delineation of the McKusick-Kaufman Hydrometrocolpos-Polydactyly Syndrome

Author Affiliations

From the Departments of Pediatrics (Drs Chitayat, Hahm, Marion, Hutcheon, Weiss, and Nitowsky and Mss Sachs and Goldman) and Pathology (Dr Cho), Albert Einstein College of Medicine, Bronx, NY. Dr Chitayat is a fellow of the Camp David Institute of Health. Dr Marion is the Fraad Scholar in Child Health, Albert Einstein College of Medicine.

Am J Dis Child. 1987;141(10):1133-1136. doi:10.1001/archpedi.1987.04460100111042

• Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that were diagnosed prenatally, were studied. Review of the 54 previously described cases indicates that postaxial polydactyly and hydrometrocolpos in female patients are the hallmark features of this entity. Other manifestations, such as malformations of gastrointestinal, cardiovascular, and ophthalmic structures, occur less consistently. Affected children require careful medical follow-up. Recurrence of hydrometrocolpos following surgical repair may lead to serious sequelae, such as chronic renal failure. We believe that MKS Is a distinct panethnic genetic entity, inherited in an autosomal recessive fashion, and that the diagnosis should be made only in female patients with hydrometrocolpos and polydactyly or in male patients with polydactyly who have an affected female relative.

(AJDC 1987;141:1133-1136)